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Basic Information

SAV Position Domain position
RS Q(SASA) Source Structural position

Pathogenicity / Stability Predictions

AlphaMissense (IC) AlphaMissense (N2AB)
CADD Condel DUET FATHMM M-CAP
mCSM MetaLR MetaSVM MPC MutationAssessor
MutationTaster MutPred MVP PolyPhen-2
PrimateAI PROVEAN REVEL Rhapsody SIFT

Disease Associations

Disease Zygosity Comments

Population Frequencies

Whole Population MAF African (AFR) Latin American (AMR)
Amish (AMS) Ashkenazi Jewish (ASJ) East Asian (EAS)
European/1KGP (EUR) Finnish (FIN) Middle Eastern (MDE)
Non-Finnish European (NFE) South Asian (SAS) Other (OTH)

Other Annotations

Site Annotation Predicted PPI site mCSM-PPI

10 20 30 40 50 60 70 80 90
R P S P P V N L T S S D Q T Q S S V Q L K W E P P L K D G G S P I L G Y I I E R C E E G K D N W I R C N M K L V P E L T Y K V T G L E K G N K Y L Y R V S A E N K A G V S D P S E I L G P L T A D D

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
15859 1 R/I 1 rs1209254347 0.6191 None gnomAD-2.1.1 2.82E-05
15859 1 R/I 1 rs1209254347 0.6191 None gnomAD-4.0.0 5.59316E-06
15860 2 P/S 2 rs754280245 0.1396 None gnomAD-2.1.1 2.34E-05
15860 2 P/S 2 rs754280245 0.1396 None gnomAD-4.0.0 1.33754E-05
15861 3 S/C 3 rs2057561826 0.1803 None gnomAD-4.0.0 5.01201E-06
15861 3 S/N 3 rs2057561467 0.1803 None gnomAD-4.0.0 5.01315E-06
15862 4 P/S 4 rs879096040 0.2870 None gnomAD-3.1.2 1.32E-05
15862 4 P/S 4 rs879096040 0.2870 None gnomAD-4.0.0 3.78513E-06
15862 4 P/T 4 None 0.2870 None gnomAD-4.0.0 1.39536E-06
15864 6 V/I 6 rs1553709304 0.3009 None gnomAD-4.0.0 1.65486E-06
15865 7 N/S 7 rs2057560011 0.5565 None gnomAD-3.1.2 1.32E-05
15865 7 N/S 7 rs2057560011 0.5565 None gnomAD-4.0.0 1.31725E-05
15866 8 L/P 9 rs756488211 0.1819 None gnomAD-2.1.1 4.5E-06
15866 8 L/P 9 rs756488211 0.1819 None gnomAD-4.0.0 1.65055E-06
15866 8 L/V 9 rs1248132383 0.1819 None gnomAD-2.1.1 4.5E-06
15866 8 L/V 9 rs1248132383 0.1819 None gnomAD-4.0.0 1.65108E-06
15868 10 S/Y 12 None 0.4346 None gnomAD-4.0.0 2.0808E-06
15870 12 D/H 14 None 0.5981 None gnomAD-4.0.0 1.63927E-06
15871 13 Q/E 15 rs1032020627 0.3514 None gnomAD-3.1.2 6.58E-06
15871 13 Q/E 15 rs1032020627 0.3514 None gnomAD-4.0.0 5.9033E-05
15871 13 Q/L 15 None 0.3514 None gnomAD-4.0.0 1.63837E-06
15871 13 Q/P 15 rs1327762563 0.3514 None gnomAD-2.1.1 4.37E-06
15871 13 Q/P 15 rs1327762563 0.3514 None gnomAD-4.0.0 3.27673E-06
15872 14 T/S 16 rs753053572 0.2407 None gnomAD-2.1.1 4.32E-06
15872 14 T/S 16 rs753053572 0.2407 None gnomAD-4.0.0 3.26347E-06
15873 15 Q/L 17 None 0.2887 None gnomAD-4.0.0 6.90716E-07
15873 15 Q/R 17 rs1344484833 0.2887 None gnomAD-2.1.1 3.19E-05
15873 15 Q/R 17 rs1344484833 0.2887 None gnomAD-3.1.2 6.58E-06
15873 15 Q/R 17 rs1344484833 0.2887 None gnomAD-4.0.0 1.25027E-06
15875 17 S/P 19 rs1274510932 0.1413 None gnomAD-3.1.2 6.59E-06
15876 18 V/F 20 None 0.1170 None gnomAD-4.0.0 6.91052E-07
15876 18 V/I 20 rs766025438 0.1170 None gnomAD-2.1.1 4.33E-06
15876 18 V/I 20 rs766025438 0.1170 None gnomAD-4.0.0 1.65852E-05
15879 21 K/Q 23 rs2057553844 0.6018 None gnomAD-3.1.2 6.58E-06
15879 21 K/Q 23 rs2057553844 0.6018 None gnomAD-4.0.0 6.58345E-06
15881 23 E/K 25 rs1437852479 0.3941 None gnomAD-3.1.2 6.59E-06
15881 23 E/K 25 rs1437852479 0.3941 None gnomAD-4.0.0 6.58718E-06
15882 24 P/L 26 rs1425908913 0.4197 None gnomAD-2.1.1 4.36E-06
15882 24 P/L 26 rs1425908913 0.4197 None gnomAD-4.0.0 3.26721E-06
15882 24 P/S 26 rs1165988992 0.4197 None gnomAD-2.1.1 4.36E-06
15882 24 P/S 26 rs1165988992 0.4197 None gnomAD-3.1.2 6.59E-06
15882 24 P/S 26 rs1165988992 0.4197 None gnomAD-4.0.0 3.13029E-06
15882 24 P/T 26 rs1165988992 0.4197 None gnomAD-4.0.0 6.91826E-07
15883 25 P/H 27 None 0.1601 None gnomAD-4.0.0 6.92158E-07
15884 26 L/P 28 rs1167024702 0.9998 None gnomAD-2.1.1 8.74E-06
15884 26 L/P 28 rs1167024702 0.9998 None gnomAD-4.0.0 3.27201E-06
15885 27 K/E 29 None 0.7882 None gnomAD-4.0.0 1.63879E-06
15886 28 D/E 30 rs1451730427 0.3129 None gnomAD-2.1.1 4.43E-06
15886 28 D/E 30 rs1451730427 0.3129 None gnomAD-4.0.0 1.64171E-06
15888 30 G/R 32 rs566975986 0.6395 None gnomAD-2.1.1 2.67E-05
15888 30 G/R 32 rs566975986 0.6395 None gnomAD-3.1.2 1.32E-05
15888 30 G/R 32 rs566975986 0.6395 None 1000 genomes 1.99681E-04
15888 30 G/R 32 rs566975986 0.6395 None gnomAD-4.0.0 7.53013E-06
15889 31 S/C 33 None 0.1980 None gnomAD-4.0.0 6.94061E-07
15889 31 S/R 33 None 0.1980 None gnomAD-4.0.0 6.94117E-07
15893 35 G/A 37 rs1224613366 0.0990 None gnomAD-3.1.2 6.59E-06
15893 35 G/A 37 rs1224613366 0.0990 None gnomAD-4.0.0 6.58788E-06
15893 35 G/D 37 rs1224613366 0.0990 None gnomAD-2.1.1 4.49E-06
15893 35 G/D 37 rs1224613366 0.0990 None gnomAD-4.0.0 3.29109E-06
15894 36 Y/C 38 rs776700723 0.1021 None gnomAD-2.1.1 4.52E-06
15894 36 Y/C 38 rs776700723 0.1021 None gnomAD-3.1.2 6.58E-06
15894 36 Y/C 38 rs776700723 0.1021 None gnomAD-4.0.0 3.95781E-06
15895 37 I/T 39 rs768530598 0.1843 None gnomAD-2.1.1 1.38E-05
15895 37 I/T 39 rs768530598 0.1843 None gnomAD-3.1.2 1.32E-05
15895 37 I/T 39 rs768530598 0.1843 None gnomAD-4.0.0 8.81579E-06
15896 38 I/L 40 None 0.0684 None gnomAD-4.0.0 6.94501E-07
15896 38 I/T 40 rs1411457226 0.0684 None gnomAD-2.1.1 3.19E-05
15896 38 I/T 40 rs1411457226 0.0684 None gnomAD-3.1.2 6.59E-06
15896 38 I/T 40 rs1411457226 0.0684 None gnomAD-4.0.0 3.14099E-06
15896 38 I/V 40 None 0.0684 None gnomAD-4.0.0 6.94501E-07
15897 39 E/A 41 rs1307467138 0.1566 None gnomAD-3.1.2 6.58E-06
15897 39 E/A 41 rs1307467138 0.1566 None gnomAD-4.0.0 6.58389E-06
15897 39 E/K 41 rs746794275 0.1566 None gnomAD-2.1.1 4.55E-06
15897 39 E/K 41 rs746794275 0.1566 None gnomAD-4.0.0 1.65081E-06
15898 40 R/G 42 None 0.2841 None gnomAD-4.0.0 3.30856E-06
15898 40 R/L 42 None 0.2841 None gnomAD-4.0.0 6.95707E-07
15898 40 R/P 42 rs376278449 0.2841 None gnomAD-2.1.1 9.19E-06
15898 40 R/P 42 rs376278449 0.2841 None gnomAD-3.1.2 6.59E-06
15898 40 R/P 42 rs376278449 0.2841 None 1000 genomes 1.99681E-04
15898 40 R/P 42 rs376278449 0.2841 None gnomAD-4.0.0 1.25838E-06
15898 40 R/Q 42 rs376278449 0.2841 None gnomAD-2.1.1 5.22E-05
15898 40 R/Q 42 rs376278449 0.2841 None gnomAD-3.1.2 6.59E-05
15898 40 R/Q 42 rs376278449 0.2841 None gnomAD-4.0.0 7.36207E-05
15899 41 C/R 43 rs1232133882 0.0778 None gnomAD-2.1.1 9.16E-06
15899 41 C/R 43 rs1232133882 0.0778 None gnomAD-3.1.2 6.58E-06
15899 41 C/R 43 rs1232133882 0.0778 None gnomAD-4.0.0 3.1449E-06
15900 42 E/A 44 None 0.2895 None gnomAD-4.0.0 1.65614E-06
15900 42 E/K 44 rs772625773 0.2895 None gnomAD-2.1.1 3.68E-05
15900 42 E/K 44 rs772625773 0.2895 None gnomAD-4.0.0 1.94871E-05
15901 43 E/K 50 rs530338718 0.4336 None gnomAD-2.1.1 4.62E-06
15901 43 E/K 50 rs530338718 0.4336 None gnomAD-3.1.2 6.58E-06
15901 43 E/K 50 rs530338718 0.4336 None 1000 genomes 1.99681E-04
15901 43 E/K 50 rs530338718 0.4336 None gnomAD-4.0.0 2.51869E-06
15902 44 G/E 54 rs561284948 0.6871 None gnomAD-2.1.1 2.83E-05
15902 44 G/E 54 rs561284948 0.6871 None gnomAD-3.1.2 9.22E-05
15902 44 G/E 54 rs561284948 0.6871 None 1000 genomes 1.99681E-04
15902 44 G/E 54 rs561284948 0.6871 None gnomAD-4.0.0 1.57486E-05
15902 44 G/R 54 rs1368589210 0.6871 None gnomAD-2.1.1 3.19E-05
15902 44 G/R 54 rs1368589210 0.6871 None gnomAD-3.1.2 6.59E-06
15902 44 G/R 54 rs1368589210 0.6871 None gnomAD-4.0.0 6.58571E-06
15902 44 G/V 54 None 0.6871 None gnomAD-4.0.0 6.9664E-07
15903 45 K/R 60 rs753276843 0.4875 None gnomAD-2.1.1 1.85E-05
15903 45 K/R 60 rs753276843 0.4875 None gnomAD-3.1.2 6.58E-06
15903 45 K/R 60 rs753276843 0.4875 None gnomAD-4.0.0 1.00779E-05
15904 46 D/G 63 None 1.0870 None gnomAD-4.0.0 3.48457E-06
15905 47 N/D 64 None 0.6538 None gnomAD-4.0.0 2.40064E-06
15906 48 W/L 65 None 0.2634 None gnomAD-4.0.0 1.6653E-06
15907 49 I/F 66 None 0.4350 None gnomAD-4.0.0 4.88482E-06
15908 50 R/C 67 rs767724702 0.2708 None gnomAD-2.1.1 9.38E-06
15908 50 R/C 67 rs767724702 0.2708 None gnomAD-4.0.0 5.58773E-06
15908 50 R/H 67 rs72677237 0.2708 None gnomAD-2.1.1 6.46738E-03
15908 50 R/H 67 rs72677237 0.2708 None gnomAD-3.1.2 5.39843E-03
15908 50 R/H 67 rs72677237 0.2708 None 1000 genomes 2.99521E-03
15908 50 R/H 67 rs72677237 0.2708 None gnomAD-4.0.0 6.40655E-03
15908 50 R/P 67 None 0.2708 None gnomAD-4.0.0 6.98924E-07
15908 50 R/S 67 rs767724702 0.2708 None gnomAD-2.1.1 3.19E-05
15908 50 R/S 67 rs767724702 0.2708 None gnomAD-3.1.2 6.59E-06
15908 50 R/S 67 rs767724702 0.2708 None gnomAD-4.0.0 5.68354E-06
15909 51 C/Y 68 None 0.1912 None gnomAD-4.0.0 6.99096E-07
15911 53 M/T 70 rs761390938 1.0038 None gnomAD-2.1.1 2.36E-05
15911 53 M/T 70 rs761390938 1.0038 None gnomAD-3.1.2 6.58E-06
15911 53 M/T 70 rs761390938 1.0038 None gnomAD-4.0.0 5.68789E-06
15912 54 K/Q 72 None 0.9122 None gnomAD-4.0.0 6.99157E-07
15913 55 L/F 75 rs138576504 0.2354 None gnomAD-2.1.1 6.57552E-04
15913 55 L/F 75 rs138576504 0.2354 None gnomAD-3.1.2 2.05431E-03
15913 55 L/F 75 rs138576504 0.2354 None 1000 genomes 2.19649E-03
15913 55 L/F 75 rs138576504 0.2354 None gnomAD-4.0.0 3.59135E-04
15913 55 L/P 75 rs1439310142 0.2354 None gnomAD-4.0.0 3.35425E-06
15914 56 V/G 77 rs2154208656 0.1076 None gnomAD-3.1.2 6.58E-06
15914 56 V/G 77 rs2154208656 0.1076 None gnomAD-4.0.0 1.26437E-06
15914 56 V/L 77 rs764059405 0.1076 None gnomAD-2.1.1 5.2E-05
15914 56 V/L 77 rs764059405 0.1076 None gnomAD-3.1.2 6.58E-06
15914 56 V/L 77 rs764059405 0.1076 None gnomAD-4.0.0 2.52919E-05
15915 57 P/L 83 None 0.4928 None gnomAD-4.0.0 6.99811E-07
15915 57 P/T 83 None 0.4928 None gnomAD-4.0.0 1.67857E-06
15917 59 L/Q 89 None 0.2424 None gnomAD-4.0.0 3.38924E-06
15918 60 T/P 90 None 0.3207 None gnomAD-4.0.0 7.02917E-07
15920 62 K/Q 92 rs775513269 0.3087 None gnomAD-2.1.1 4.46E-05
15920 62 K/Q 92 rs775513269 0.3087 None gnomAD-3.1.2 6.58E-06
15920 62 K/Q 92 rs775513269 0.3087 None gnomAD-4.0.0 1.89511E-05
15920 62 K/R 92 rs1223537376 0.3087 None gnomAD-4.0.0 1.70641E-06
15921 63 V/A 93 None 0.1375 None gnomAD-4.0.0 2.15989E-06
15921 63 V/F 93 None 0.1375 None gnomAD-4.0.0 7.19923E-07
15921 63 V/I 93 rs778682806 0.1375 None gnomAD-4.0.0 7.19923E-07
15921 63 V/L 93 rs778682806 0.1375 None gnomAD-2.1.1 1.28E-05
15921 63 V/L 93 rs778682806 0.1375 None gnomAD-4.0.0 7.19923E-06
15922 64 T/A 94 rs2057504712 0.5655 None gnomAD-3.1.2 6.58E-06
15922 64 T/I 94 rs2057504360 0.5655 None gnomAD-4.0.0 2.1552E-06
15923 65 G/E 96 rs763457943 0.5018 None gnomAD-2.1.1 1.24E-05
15923 65 G/E 96 rs763457943 0.5018 None gnomAD-4.0.0 3.55191E-06
15923 65 G/R 96 rs371943746 0.5018 None gnomAD-2.1.1 1.79236E-04
15923 65 G/R 96 rs371943746 0.5018 None gnomAD-3.1.2 4.28291E-04
15923 65 G/R 96 rs371943746 0.5018 None gnomAD-4.0.0 1.14647E-04
15924 66 L/F 97 None 0.1436 None gnomAD-4.0.0 7.16023E-07
15925 67 E/K 98 None 0.6087 None gnomAD-4.0.0 7.15785E-07
15926 68 K/R 99 None 0.3704 None gnomAD-4.0.0 1.20188E-06
15927 69 G/V 100 rs2057501392 0.3423 None gnomAD-4.0.0 7.14299E-07
15928 70 N/H 102 rs1442489406 0.3244 None gnomAD-2.1.1 3.19E-05
15928 70 N/H 102 rs1442489406 0.3244 None gnomAD-3.1.2 6.58E-06
15928 70 N/H 102 rs1442489406 0.3244 None gnomAD-4.0.0 6.58129E-06
15929 71 K/E 103 rs1386533299 0.3180 None gnomAD-2.1.1 6.04E-06
15929 71 K/E 103 rs1386533299 0.3180 None gnomAD-4.0.0 1.22659E-05
15932 74 Y/H 106 rs780464378 0.1124 None gnomAD-4.0.0 4.25533E-06
15933 75 R/G 107 rs2057499255 0.1550 None gnomAD-3.1.2 6.58E-06
15933 75 R/G 107 rs2057499255 0.1550 None gnomAD-4.0.0 6.57999E-06
15933 75 R/K 107 None 0.1550 None gnomAD-4.0.0 7.03322E-07
15933 75 R/S 107 None 0.1550 None gnomAD-4.0.0 1.40673E-06
15935 77 S/T 109 None 0.1256 None gnomAD-4.0.0 6.99974E-07
15936 78 A/E 110 None 0.0884 None gnomAD-4.0.0 6.95404E-07
15936 78 A/T 110 rs1401370061 0.0884 None gnomAD-4.0.0 1.65629E-06
15939 81 K/E 113 rs1408557748 0.8114 None gnomAD-2.1.1 4.49E-06
15939 81 K/I 113 rs760239452 0.8114 None gnomAD-4.0.0 1.38222E-06
15941 83 G/A 115 None 0.1706 None gnomAD-4.0.0 1.62144E-06
15941 83 G/D 115 None 0.1706 None gnomAD-4.0.0 1.62144E-06
15944 86 D/N 119 None 0.7967 None gnomAD-4.0.0 1.614E-06
15944 86 D/V 119 rs1442512599 0.7967 None gnomAD-4.0.0 1.61302E-06
15944 86 D/Y 119 None 0.7967 None gnomAD-4.0.0 1.614E-06
15946 88 S/P 121 rs369663023 0.1583 None gnomAD-2.1.1 2.61E-05
15946 88 S/P 121 rs369663023 0.1583 None gnomAD-3.1.2 8.56E-05
15946 88 S/P 121 rs369663023 0.1583 None gnomAD-4.0.0 2.11702E-05
15948 90 I/S 123 rs767552822 0.4539 None gnomAD-2.1.1 4.18E-06
15948 90 I/S 123 rs767552822 0.4539 None gnomAD-4.0.0 1.60645E-06
15949 91 L/F 124 None 0.2077 None gnomAD-4.0.0 6.86919E-07
15949 91 L/I 124 None 0.2077 None gnomAD-4.0.0 6.86919E-07
15949 91 L/V 124 rs759304727 0.2077 None gnomAD-2.1.1 8.34E-06
15949 91 L/V 124 rs759304727 0.2077 None gnomAD-3.1.2 6.59E-06
15949 91 L/V 124 rs759304727 0.2077 None gnomAD-4.0.0 1.24408E-06
15950 92 G/D 125 rs1289743625 0.3849 None gnomAD-2.1.1 7.35E-06
15950 92 G/D 125 rs1289743625 0.3849 None gnomAD-3.1.2 6.59E-06
15950 92 G/D 125 rs1289743625 0.3849 None gnomAD-4.0.0 2.58056E-06
15950 92 G/S 125 None 0.3849 None gnomAD-4.0.0 1.6053E-06
15951 93 P/R 126 None 0.4699 None gnomAD-4.0.0 1.37309E-06
15951 93 P/S 126 None 0.4699 None gnomAD-4.0.0 3.43274E-06
15952 94 L/P 127 None 0.2768 None gnomAD-4.0.0 1.20046E-06
15952 94 L/V 127 rs2057492461 0.2768 None gnomAD-4.0.0 1.37272E-06
15953 95 T/I 129 None 0.3839 None gnomAD-4.0.0 2.40098E-06
15954 96 A/T 130 rs377037421 0.0826 None gnomAD-2.1.1 7E-05
15954 96 A/T 130 rs377037421 0.0826 None gnomAD-3.1.2 7.24E-05
15954 96 A/T 130 rs377037421 0.0826 None gnomAD-4.0.0 5.53064E-05
15955 97 D/E 131 None 0.3754 None gnomAD-4.0.0 1.37179E-06
15955 97 D/H 131 rs1363215463 0.3754 None gnomAD-2.1.1 4.1E-06
15955 97 D/H 131 rs1363215463 0.3754 None gnomAD-3.1.2 6.58E-06
15955 97 D/H 131 rs1363215463 0.3754 None gnomAD-4.0.0 2.57433E-06
15956 98 D/E 132 None 0.5337 None gnomAD-4.0.0 6.85765E-07
15956 98 D/N 132 rs372881122 0.5337 None gnomAD-2.1.1 2.54E-05
15956 98 D/N 132 rs372881122 0.5337 None gnomAD-3.1.2 5.93E-05
15956 98 D/N 132 rs372881122 0.5337 None 1000 genomes 1.99681E-04
15956 98 D/N 132 rs372881122 0.5337 None gnomAD-4.0.0 1.55286E-05